Nettore, 2013: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
BRA
17
n.a.
Yes
-Motor
Chorea
Chorea
No
n.a.
BRA
n.a.
n.a.
Yes
Chorea
Hypothyroidism
-Motor
Cognitive impairment
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Chorea
Hypothyroidism
No
n.a.
BRA
n.a.
n.a.
Yes
-Motor
Hypothyroidism
Chorea
Chorea
No
n.a.
BRA
22
n.a.
Yes
-Motor
Dystonia, cervical
Dystonia
Dystonia (any or unspecified)
Hypothyroidism
Chorea
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Dystonia, cervical
Hypothyroidism
Yes
n.a.
BRA
n.a.
n.a.
Yes
Developmental delay
Motor delay
Global developmental delay
Cerebellar signs
Chorea
Delayed fine motor development
Gait impairment
Hypothyroidism
Ataxia
-Motor
Delayed gross motor development
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Motor delay
Chorea